NOP9 NOP9 nucleolar protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOP9provided by HGNC
Official Full Name: NOP9 nucleolar proteinprovided by HGNC
Primary source: HGNC:HGNC:19826
See related: Ensembl:ENSG00000196943 MIM:618308; AllianceGenome:HGNC:19826
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HP08474; C14orf21
Summary: Enables RNA binding activity. Predicted to be involved in ribosome biogenesis. Predicted to be part of 90S preribosome and preribosome, small subunit precursor. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum (RPKM 25.7), liver (RPKM 25.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24271203..24309124)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18498194..18507467)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24769056..24778330)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, chromosome 14 open reading frame 21, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1220 (e-PCR)
- UniSTS:15420

STS-Z41293 (e-PCR)
- UniSTS:82753

RH94061 (e-PCR)
- UniSTS:89420

CIDEB_7222 (e-PCR)
- UniSTS:466120

RH93439 (e-PCR)
- UniSTS:90599

RH91413 (e-PCR)
- UniSTS:84456

STS-AA009760 (e-PCR)
- UniSTS:78057

Homology

Homologs of the NOP9 gene: The NOP9 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 395 organisms have orthologs with human gene NOP9
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in ribosomal small subunit export from nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in cellular_component	ND No biological Data available more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of preribosome, small subunit precursor	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: nucleolar protein 9

Names: NOP9 nucleolar protein homolog; hypothetical protein HP08474; pumilio domain-containing protein C14orf21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001286367.2 → NP_001273296.1 nucleolar protein 9 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses two alternate splice sites in the coding region, which results a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AB095941, AL096870, BC015481, BC025332, HY061279

Consensus CDS

CCDS66616.1

UniProtKB/Swiss-Prot

Q86U38

Related

ENSP00000380020.3, ENST00000396802.7
NM_174913.3 → NP_777573.1 nucleolar protein 9 isoform 1

See identical proteins and their annotated locations for NP_777573.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB095941, AL096870, BC015481, HY061279

Consensus CDS

CCDS9624.1

UniProtKB/Swiss-Prot

Q86U38, Q8TBS6

Related

ENSP00000267425.3, ENST00000267425.8

Conserved Domains (1) summary

cl21719
Location:512 → 600

Pumilio; Pumilio-family RNA binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

24271203..24309124

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431054.1 → XP_047287010.1 nucleolar protein 9 isoform X1
XM_047431053.1 → XP_047287009.1 nucleolar protein 9 isoform X1
XM_047431052.1 → XP_047287008.1 nucleolar protein 9 isoform X1
XM_047431055.1 → XP_047287011.1 nucleolar protein 9 isoform X1
XM_005267385.2 → XP_005267442.1 nucleolar protein 9 isoform X1

Conserved Domains (1) summary

cl21719
Location:526 → 614

Pumilio; Pumilio-family RNA binding domain
XM_011536526.3 → XP_011534828.1 nucleolar protein 9 isoform X2

Conserved Domains (1) summary

cl21719
Location:442 → 530

Pumilio; Pumilio-family RNA binding domain
XM_011536527.3 → XP_011534829.1 nucleolar protein 9 isoform X3